A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342081



Internal ID20999634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134320501..134359400hg38UCSC Ensembl
chr2:135078072..135116971hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3838900
hg1938900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18077595
Samples
Known GenesMGAT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342081
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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